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Journal Abstract Search

153 related items for PubMed ID: 7678331

  • 1. Gene in the region of the Friedreich ataxia locus encodes a putative transmembrane protein expressed in the nervous system.
    Duclos F, Boschert U, Sirugo G, Mandel JL, Hen R, Koenig M.
    Proc Natl Acad Sci U S A; 1993 Jan 01; 90(1):109-13. PubMed ID: 7678331
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  • 2. Additional polymorphisms at marker loci D9S5 and D9S15 generate extended haplotypes in linkage disequilibrium with Friedreich ataxia.
    Fujita R, Hanauer A, Sirugo G, Heilig R, Mandel JL.
    Proc Natl Acad Sci U S A; 1990 Mar 01; 87(5):1796-800. PubMed ID: 1968638
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  • 3. Physical evidence for the position of the Friedreich's ataxia locus FRDA proximal to D9S5.
    Hillermann R, See CG, Pook M, Wilkes D, Carvajal J, Doudney K, Williamson R, Chamberlain S.
    Cytogenet Cell Genet; 1995 Mar 01; 71(3):214-6. PubMed ID: 7587379
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  • 4. Study of large inbred Friedreich ataxia families reveals a recombination between D9S15 and the disease locus.
    Belal S, Panayides K, Sirugo G, Ben Hamida C, Ioannou P, Hentati F, Beckmann J, Koenig M, Mandel JL, Ben Hamida M.
    Am J Hum Genet; 1992 Dec 01; 51(6):1372-6. PubMed ID: 1463017
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  • 5. A 530kb YAC contig tightly linked to the Friedreich ataxia locus contains five CpG clusters and a new highly polymorphic microsatellite.
    Fujita R, Sirugo G, Duclos F, Abderrahim H, Le Paslier D, Cohen D, Brownstein BH, Schlessinger D, Mandel JL, Koenig M.
    Hum Genet; 1992 Jul 01; 89(5):531-8. PubMed ID: 1353054
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  • 7. Physical mapping of two loci (D9S5 and D9S15) tightly linked to Friedreich ataxia locus (FRDA) and identification of nearby CpG islands by pulse-field gel electrophoresis.
    Fujita R, Hanauer A, Vincent A, Mandel JL, Koenig M.
    Genomics; 1991 Aug 01; 10(4):915-20. PubMed ID: 1916823
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  • 9. Recombinations in individuals homozygous by descent localize the Friedreich ataxia locus in a cloned 450-kb interval.
    Rodius F, Duclos F, Wrogemann K, Le Paslier D, Ougen P, Billault A, Belal S, Musenger C, Brice A, Dürr A.
    Am J Hum Genet; 1994 Jun 01; 54(6):1050-9. PubMed ID: 8198128
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  • 13. Genetic recombination events which position the Friedreich ataxia locus proximal to the D9S15/D9S5 linkage group on chromosome 9q.
    Chamberlain S, Farrall M, Shaw J, Wilkes D, Carvajal J, Hillerman R, Doudney K, Harding AE, Williamson R, Sirugo G.
    Am J Hum Genet; 1993 Jan 01; 52(1):99-109. PubMed ID: 8434613
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  • 14. The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13.
    Montermini L, Rodius F, Pianese L, Moltò MD, Cossée M, Campuzano V, Cavalcanti F, Monticelli A, Palau F, Gyapay G.
    Am J Hum Genet; 1995 Nov 01; 57(5):1061-7. PubMed ID: 7485155
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  • 15. Isolation of a new gene in the Friedreich ataxia candidate region on human chromosome 9 by cDNA direct selection.
    Pandolfo M, Pizzuti A, Redolfi E, Munaro M, Di Donato S, Cavalcanti F, Filla A, Monticelli A, Pianese L, Cocozza S.
    Biochem Med Metab Biol; 1994 Aug 01; 52(2):115-9. PubMed ID: 7993657
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  • 16. Localization of DNA probes tightly linked to the Friedreich's ataxia locus by in situ hybridization in a case of pericentric inversion of chromosome 9.
    Raimondi E, Bernasconi P, Moralli D, Fujita R, Uziel G, Di Donato S, De Carli L, Pandolfo M.
    Hum Genet; 1991 Mar 01; 86(5):525-8. PubMed ID: 2016094
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  • 17. Friedreich's disease. A linkage study in southern and central Italy.
    Cavalcanti F, Cocozza S, Filla A, De Michele G, Pianese L, Porcellini A, Monticelli A, Pandolfo M, Banfi S, Varrone S.
    Acta Neurol (Napoli); 1992 Mar 01; 14(4-6):519-23. PubMed ID: 1363458
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  • 18. Friedreich ataxia in Italian families: genetic homogeneity and linkage disequilibrium with the marker loci D9S5 and D9S15.
    Pandolfo M, Sirugo G, Antonelli A, Weitnauer L, Ferretti L, Leone M, Dones I, Cerino A, Fujita R, Hanauer A.
    Am J Hum Genet; 1990 Aug 01; 47(2):228-35. PubMed ID: 2378348
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  • 19. Allele frequencies of DNA markers genetically linked to Friedreich ataxia in the German population.
    Zühlke C, Thies U.
    Hum Hered; 1993 Aug 01; 43(2):78-81. PubMed ID: 8103037
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  • 20. Linkage disequilibrium analysis of Friedreich's ataxia in 140 Caucasian families: positioning of the disease locus and evaluation of allelic heterogeneity.
    Sirugo G, Cocozza S, Brice A, Cavalcanti F, De Michele G, Dones I, Filla A, Koenig M, Lorenzetti D, Monticelli A.
    Eur J Hum Genet; 1993 Aug 01; 1(2):133-43. PubMed ID: 7914465
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